Li Hong-yi, Wu Weiq-ing, Zheng Hui, Duan Hong-lei, Chen Zheng, Chen Lu-ming
Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong, 510089 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):280-2.
Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).
To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.
The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC. However, the fetus did not get any one of the two mutations, and so was with a normal genotype and phenotype. The parents of proband in family 2 were heterozygous with IVS4+ 3A>T or G253E respectively, but their fetus was heterozygous only with IVS4+3A>T but without G253E, and so was a carrier as his father.
In the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the first time.
对两个患有Ⅰ型眼皮肤白化病（OCA1）的家系进行酪氨酸酶（TYR）基因突变分析及产前基因诊断。
为确定胎儿基因型及基因突变位点，应用聚合酶链反应（PCR）和测序技术，对两个家系的先证者及其父母的TYR基因外显子、外显子 - 内含子及启动子区域进行扩增和分析。
家系1的患者或先证者表现为R278X和929insC突变的复合杂合子。然而，胎儿未获得这两种突变中的任何一种，因此具有正常的基因型和表型。家系2先证者的父母分别为IVS4 + 3A>T或G253E的杂合子，但其胎儿仅为IVS4 + 3A>T的杂合子，无G253E突变，因此与其父亲一样为携带者。
首次报道了中国大陆地区OCA1的产前基因诊断。
